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Polymorphism, Single Nucleotide
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Definition of 'Polymorphism, Single Nucleotide'

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

Common names: Polymorphism, Single Nucleotide; Nucleotide Polymorphism, Single; Nucleotide Polymorphisms, Single; Polymorphisms, Single Nucleotide; Single Nucleotide Polymorphisms; SNPs; Single Nucleotide Polymorphism

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Sunday, November 22, 2009

Hereditary hemochromatosis gene (HFE) variants are associated with birth weight and childhood leukemia risk.

13 Dec 2009 BACKGROUND: Our original studies reported an association between the iron-metabolism gene HFE and risk of childhood acute lymphoblastic leukemia (ALL), and a birth weight association in ALL. Through its effect on cell proliferation, iron is involved ... Read more...


Common germline polymorphisms in COMT, CYP19A1, ESR1, PGR, SULT1E1 and STS and survival after a diagnosis of breast cancer.

29 Nov 2009 Although preliminary evidence suggests that germline variation in genes involved in steroid hormone metabolism may alter breast cancer prognosis, this has not been systematically evaluated. We examined associations between germline polymorphisms in ... Read more...


Deficient serum mannose-binding lectin levels and MBL2 polymorphisms increase the risk of single and recurrent Cryptosporidium infections in young children.

13 Nov 2009 Mannose-binding lectin (MBL) is an evolutionarily conserved protein that functions in human innate immunity by binding to microbial surfaces and promoting opsonophagocytosis. MBL has been shown to bind to Cryptosporidium sporozoites, and earlier ... Read more...

 

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Technical information about 'Polymorphism, Single Nucleotide'

Definition: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

Descriptor UI: D020641

Alternative terms: Polymorphism, Single Nucleotide; Nucleotide Polymorphism, Single; Nucleotide Polymorphisms, Single; Polymorphisms, Single Nucleotide; Single Nucleotide Polymorphisms; SNPs; Single Nucleotide Polymorphism;

Allowable Qualifiers: drug effects; genetics; immunology; physiology; radiation effects;

Tree Number: G05.365.795.598;

History Note: 2000

Technical Notes: do not confuse with POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL

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